The topic Bulldog Syndrome you are seeking is a synonym, or alternative name, or is closely related to the medical condition Simpson-Golabi-Behmel Syndrome.

Quick Summary:

• Simpson-Golabi-Behmel Syndrome (SGBS) is a rare inherited disorder that occurs predominantly in males. It is caused by mutation in the GPC3 gene. The condition is inherited in an X-linked manner
• This gene codes for the protein glypican 3, which is involved in the regulation of cell growth and multiplication. When mutated, there occurs a dysregulation of cell growth, resulting in excess growth in the fetal stages as well as after birth
• Simpson-Golabi-Behmel Syndrome is classified into the following 2 types:
  • Type 1 or the classical type - it is the most frequent type encountered
  • Type 2 or the lethal type - this form is very rare, with about 10 cases being reported in scientific literature. This type of SGBS is the lethal variant of type 1, and is characterized by accumulation of fluids in different fetal parts (hydrops fetalis)
• The symptoms of Simpson-Golabi-Behmel Syndrome may include a distinctive facial appearance (such as widely-spaced eyes, a wide and upturend nose, abnormally large mouth), an abnormal rate of growth and weight gain, formation of tumors in the abdomen, enlarged organs (liver, spleen, kidneys), cardiac problems, low muscle tone, speech impediment, intellectual impairment, and attention deficit hyperactivity disorder (ADHD)
• Some females with a single copy of mutated gene can also show symptoms, which may include a broad and upturned nose, wide mouth, extra bones in the vertebral column, malformed nails, and extra nipples
• Simpson-Golabi-Behmel Syndrome may be suspected and diagnosed prenatally during routine examination of the pregnant woman. Molecular genetic testing of the fetus can confirm the diagnosis. After birth, a physical examination, assessment of symptoms, evaluation of family medical history, imaging studies, and molecular genetic testing aid in the diagnostic process
• Many complications can arise in individuals with Simpson-Golabi-Behmel Syndrome, which include enlarged organs, formation of tumors in organs (such as Wilms tumor in the kidneys and neuroblastoma in developing nerve cells), intellectual deficiency, and the often fatal fluid retention in several fetal compartments
• There is no cure for Simpson-Golabi-Behmel Syndrome, and the treatment is geared towards symptom management. Speech therapy and occupational therapy may be required for an affected individual to lead as normal a life as possible
• The prognosis of Simpson-Golabi-Behmel Syndrome is dependent on the severity of symptoms. The severe form of the disease is often fatal; the child may die in utero or after birth

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